Allele Registry

Canonical Allele Identifier: PA2828090110

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042579

RCV000518124

ClinVar Variation:

49319

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Leu160Val	CA021005 NM_001363528.2:c.478C>G